[MIM 615 710]

Extremely rare. Autosomal recessive transmission of a mutation of the RFX6 gene (6q22.1).

Association of:

-        neonatal diabetes mellitus with intrauterine growth retardation

-        hypoplasia of the pancreas (or annular pancreas)

-        duodenal or intestinal atresia

-        aplasia/hypoplasia of the gallbladder (or bile ducts).

Close to Martinez-Frias syndrome where neonatal diabetes mellitus is absent but with a frequent esotracheal fistula

Anesthetic implications:

growth retardation, diabetes mellitus, cholestasis

References :

-        Estefania-Fernandez K, Andrés A, Alcolea A, Velayos-Lopez M, Pastrian G et al.
First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome.
Pediatr Transplantation 2022 ; 26 e14270

Updated: August 2022